E311K (p.Glu311Lys) variant of ALPL (P05186)
E311K (p.Glu311Lys) in ALPL (P05186) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
E311K (p.Glu311Lys) variant details
- p.Glu311Lys
- rs763457259
- ClinGen CA666685
- ClinVar RCV001974667
- ClinVar RCV002243489
- Pathogenic/Likely pathogenic
- Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.94
- CADD 27.00
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hy)
- EBI: Pathogenic (in HOPS)
- UniProt: Pathogenic (in HOPS)
- Most common in the Middle Eastern population (allele frequency 0.0032)
- Structural context available
- Cited in: Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene. (PMID 12815606)
- Cited in: Hypophosphatasia. (PMID 20301329)